OSCR

Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.

Overview

Authors: Irena Rysankova1, David Sekac2,3, Hana Hansikova4, Katerina Vodickova Kepkova5, Petr Vodicka5, Michaela Vaskovicova6, Marie Altmanova7, Stefan Juhas2, Jana Juhasova2, Eliska Taborska2,8, Jiri Klempir1, Jan Motlik2, Jiri Klima2, Lars Eide9, Zdenka Ellederova2
ORCID iDs: Hana Hansikova, Michaela Vaskovicova, Marie Altmanova, Zdenka Ellederova
  1. Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, 120 00 Prague, Czech Republic
  2. Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic
  3. Department of Cell Biology, Faculty of Science, Charles University in Prague, 128 00 Prague, Czech Republic
  4. Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague 2, Czech Republic
  5. Laboratory of Applied Proteome Analyses, Institute of Animal Physiology and Genetic of the Czech Academy of Sciences, 277 21 Libechov, Czech Republic
  6. Laboratory of DNA integrity, Institute of Animal Physiology and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic
  7. Laboratory of Fish Genetics, Institute of Animal Physiology and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic
  8. Laboratory of Biotransformation, Institute of Microbiology of the Czech Academy of Sciences, 142 00 Prague, Czech Republic
  9. Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway
Institutions: Charles University (Czechia); General University Hospital in Prague (Czechia); Czech Academy of Sciences (Czechia); Czech Academy of Sciences, Institute of Animal Physiology and Genetics (Czechia); Czech Academy of Sciences, Institute of Microbiology (Czechia); Oslo University Hospital (Norway); University of Oslo (Norway)
Journal: Disease models & mechanisms, volume 19, issue 6, article dmm052585
Dates: received 28 July 2025; accepted 2 February 2026; published online 11 May 2026; in print June 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1242/dmm.052585 · PMID 42109206 · PMCID PMC13225199 · OpenAlex W7160845079
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: human (organism), other (organism), other condition (population), cellular / molecular (subfield)
Methods: Spectral & time-frequency, Statistics
Keywords: Huntington's disease, Transgenic minipig model, Induced pluripotent stem cells, Mitochondria, Gene expression, DNA damage
MeSH: Huntington Disease*, Induced Pluripotent Stem Cells*, Animals, Animals, Genetically Modified, Cell Differentiation, Disease Models, Animal, DNA Damage, Gene Expression Regulation, Humans, Huntingtin Protein, Mitochondria, Swine, Swine, Miniature (* major topic)
Topic: Genetic Neurodegenerative Diseases (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex
Funding: Ústav živocišné fyziologie a genetiky AV CR; Ministerstvo Školství, Mládeže a Tělovýchovy (CZ.02.01.01/00/22_008/0004562); EU Joint Programme - Neurodegenerative Disease Research (JPND2023-1822-096); Univerzita Karlova v Praze; Ministerstvo Zdravotnictví Ceské Republiky (9F2400, VFN00064165); European Reference Network for Rare Neurological Diseases (739510); Akademie Věd České Republiky (AV21 (VP29)); CHDI Foundation
Citations: cited by 2 papers (Europe PMC); 69 references in the paper

Abstract

Huntington's disease (HD) is a neurodegenerative autosomal dominant hereditary disease caused by a CAG triplet repeat expansion mutation in the gene encoding the huntingtin (HTT) protein. The main feature of HD is the loss of striatal neurons, accompanied by metabolic and transcriptional alterations in both neural and peripheral tissues.

Induced pluripotent stem cells (iPSCs) derived from a transgenic HD (TgHD) minipig model expressing a mutant HTT construct were generated to investigate early metabolic, antioxidant and DNA integrity changes associated with HD development. Gene expression analysis showed increased expression of vascular endothelial growth factor (VEGF), pyruvate dehydrogenase kinase 1 (PDK1) and glutamine-oxaloacetic transaminase 1 (GOT1), implying early metabolic alteration in TgHD iPSCs. Moreover, upregulated FANCD2/FANCI-associated nuclease 1 (FAN1) expression indicated genotoxic stress linked to early HD development. These findings suggest metabolic shifts and putative genotoxic events in the pluripotent stem cell state of the TgHD model and point to early effect of the HD mutation. The model may be suitable for evaluating potential cell therapy and in vitro differentiation of iPSCs to neurons and other cells affected in HD.

Reproduced under the paper's license (CC BY), from the paper cited above.

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Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 15 authors, 6 keywords, 13 MeSH terms, 8 funders, 69 references.

Cite

This paper

Rysankova, I., Sekac, D., Hansikova, H., Kepkova, K. V., Vodicka, P., Vaskovicova, M., Altmanova, M., Juhas, S., Juhasova, J., Taborska, E., Klempir, J., Motlik, J., Klima, J., Eide, L., & Ellederova, Z. (2026). Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes. Disease models & mechanisms, 19(6), dmm052585. https://doi.org/10.1242/dmm.052585

BibTeX

@article{rysankova2026induced,
author = {Rysankova, Irena and Sekac, David and Hansikova, Hana and Kepkova, Katerina Vodickova and Vodicka, Petr and Vaskovicova, Michaela and Altmanova, Marie and Juhas, Stefan and Juhasova, Jana and Taborska, Eliska and Klempir, Jiri and Motlik, Jan and Klima, Jiri and Eide, Lars and Ellederova, Zdenka},
title = {{Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes}},
journal = {Disease models \& mechanisms},
year = {2026},
month = may,
volume = {19},
number = {6},
pages = {dmm052585},
publisher = {Company of Biologists},
issn = {1754-8403},
doi = {10.1242/dmm.052585},
url = {https://doi.org/10.1242/dmm.052585},
pmid = {42109206},
pmcid = {PMC13225199}
}

RIS

TY - JOUR
AU - Rysankova, Irena
AU - Sekac, David
AU - Hansikova, Hana
AU - Kepkova, Katerina Vodickova
AU - Vodicka, Petr
AU - Vaskovicova, Michaela
AU - Altmanova, Marie
AU - Juhas, Stefan
AU - Juhasova, Jana
AU - Taborska, Eliska
AU - Klempir, Jiri
AU - Motlik, Jan
AU - Klima, Jiri
AU - Eide, Lars
AU - Ellederova, Zdenka
TI - Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes
T2 - Disease models & mechanisms
J2 - Dis Model Mech
PY - 2026
DA - 2026/05/11
VL - 19
IS - 6
SP - dmm052585
SN - 1754-8403
PB - Company of Biologists
DO - 10.1242/dmm.052585
UR - https://doi.org/10.1242/dmm.052585
LA - en
ER -

CSL-JSON

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